A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060582



Internal ID21192253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:153815222..153816721hg38UCSC Ensembl
chr7:153512307..153513806hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019825
SamplesCHM1
Known Genes
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3060582
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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